Varaico: Literature-Extracted Genetic Variants

Gene:S100A8
Variant:p.D14_V15del2

S100A8

99 papers

RefSeq Summary

The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of ...

Pfam Domains

S_100aa 5–49UCSCS-100/ICaBP type calcium binding domain
S_100aa 5–49UCSCS-100/ICaBP type calcium binding domain
S_100aa 5–49UCSCS-100/ICaBP type calcium binding domain

Gene Aliases

HGNC Name

S100 calcium binding protein A8

HGNC Previous Symbols

CAGA; CFAG

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002964.5
p.D14_V15del2
c.40_44del6
Surrounding Variants
1 paper
NM_002964.5
p.Y16S
c.47A>C
1 paper
NM_002964.5
p.V15I
c.43G>A
1 paper
NM_002964.5
p.I12V
c.34A>G
1 paper
NM_002964.5
p.S11ins1
c.31_32insTCT
1 paper
NM_002964.5
p.L21L
c.61C>T
1 paper
NM_002964.5
p.A8delFs
c.23_24delGG
1 paper
NM_002964.5
p.A8A
c.24C>T
1 paper
NM_002964.5
p.N25D
c.73A>G
1 paper
NM_002964.5
p.E6E
c.18G>A
1 paper
NM_002964.5
p.K23_G24del2
c.67_71del6
1 paper
NM_002964.5
p.L5delFs
c.14_15delCA
2 papers
NM_002964.5
p.E4D
c.12G>C
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